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Title: Secondary acute monocytic leukemia positive for 11q23 rearrangement in Nijmegen breakage syndrome
Authors: Pastorczak, Agata ×
Szczepanski, Tomasz
Trelinska, Joanna
Finalet Ferreiro, Julio
Wlodarska, Iwona
Mycko, Katarzyna
Polucha, Anna
Sedek, Lukasz
Meyer, Claus
Marschalek, Rolf
MÅ‚ynarski, Wojciech #
Issue Date: Aug-2014
Publisher: Wiley-Liss
Series Title: Pediatric Blood & Cancer vol:61 issue:8 pages:1469-71
Article number: 10.1002/pbc.24994
Abstract: Nijmegen breakage syndrome (NBS) is an autosomal recessive chromosomal instability disorder characterized by a high incidence of pediatric hematologic malignancies. Majority of patients affected are of Slavic origin and share the same founder mutation of 657del5 within the NBN gene encoding protein involved in DNA double-strand breaks (DSB) repair. We report a case of a pediatric patient with NBS, who developed t(9;11)/AF9-MLL-positive AML as a second malignancy after successful treatment of T-NHL. The coexistence of NBN and MLL mutations suggests that the profound dysfunction of NBN may promote alterations of MLL that is mediated by error-prone non-homologous end joining pathway particularly in patients treated with DNA topoisomerase II inhibitors. Pediatr Blood Cancer © 2014 Wiley Periodicals, Inc.
URI: 
ISSN: 1545-5009
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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